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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
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Rare adrenal disease
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Orphanet_101954 |
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Rare thyroid disease
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Orphanet_101955 |
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Autosomal dominant epilepsy with auditory features
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Orphanet_101046 |
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X-linked Charcot-Marie-Tooth disease type 1
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Orphanet_101075 |
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X-linked Charcot-Marie-Tooth disease type 2
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Orphanet_101076 |
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X-linked Charcot-Marie-Tooth disease type 3
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Orphanet_101077 |
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X-linked Charcot-Marie-Tooth disease type 4
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Orphanet_101078 |
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Rare vascular liver disease
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Orphanet_101938 |
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Rare parenchymal liver disease
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Orphanet_101939 |
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Rare metabolic liver disease
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Orphanet_101940 |
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Sub-cortical nodular heterotopia
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Orphanet_101029 |
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Subependymal nodular heterotopia
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Orphanet_101030 |
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Familial hypocalciuric hypercalcemia type 2
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Orphanet_101049 |
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Familial hypocalciuric hypercalcemia type 3
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Orphanet_101050 |
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Female restricted epilepsy with intellectual disability
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Orphanet_101039 |
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